Laura Serra-Planas
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 25 publications
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Journal: American journal of human genetics
Published: April 05, 2026
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Journal: American journal of human genetics
Published: July 31, 2024
Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.
Journal: The Journal of clinical investigation
Published: July 11, 2024
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Journal: Journal of clinical immunology
Published: April 30, 2024
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Journal: Genome medicine
Published: January 06, 2024
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Journal: Genome medicine
Published: February 08, 2023
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Journal: medRxiv : the preprint server for health sciences
Published: November 03, 2022
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Journal: The Journal of clinical investigation
Published: June 23, 2022
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
Journal: The Journal of clinical investigation
Published: June 17, 2022
Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy.
Journal: Acta neuropathologica
Published: January 11, 2022
Last Updated: 09/26/2026